Q79.3 Gastroschisis

Name of the Condition

• Gastroschisis

Summary

Gastroschisis is a congenital abdominal wall defect where the intestines protrude through an opening near the umbilicus, without a protective sac. This condition is typically diagnosed prenatally or at birth and requires prompt medical intervention. The severity varies, but the exposed organs are at risk of damage, infection, and complications related to intestinal function.

Causes

Gastroschisis occurs due to a failure of the abdominal wall to close properly during fetal development, usually around the 4th to 6th week of gestation. The exact cause is often unknown, though it is not associated with genetic syndromes or chromosomal abnormalities. Environmental factors, such as maternal smoking or young maternal age, may contribute to its development.

Risk Factors

• Young maternal age (typically under 20 years).
• Maternal smoking during pregnancy.
• Low body mass index (BMI) before pregnancy.
• Certain medications or substance use during pregnancy.

Symptoms

• Intestines protruding through the abdominal wall near the umbilicus at birth.
• No protective sac covering the exposed organs.
• Possible signs of intestinal damage or inflammation.
• Potential for bowel dysfunction or feeding difficulties.

Diagnosis

Prenatal diagnosis is often made via ultrasound, which may show free-floating loops of bowel in the amniotic fluid. Postnatal diagnosis is confirmed by physical examination at birth, revealing the abdominal wall defect and exposed intestines. Imaging or additional tests may be used to assess organ damage or associated anomalies.

Treatment Options

• Surgical repair to return the intestines to the abdominal cavity and close the defect.
• Initial stabilization, including temperature regulation and fluid management.
• Gradual feeding advancement once bowel function recovers.
• Long-term monitoring for complications like intestinal strictures or motility issues.

Prognosis and Follow-Up

Prognosis is generally favorable with timely surgical intervention, though outcomes depend on the extent of intestinal damage and associated complications. Long-term follow-up is necessary to monitor growth, nutritional status, and gastrointestinal function. Most infants recover well, but some may require additional surgeries or specialized care.

Complications

• Intestinal atresia or strictures.
• Bowel inflammation or infection.
• Poor weight gain or feeding difficulties.
• Increased risk of necrotizing enterocolitis.
• Potential for long-term gastrointestinal motility issues.

Lifestyle & Prevention

• Avoid smoking and limit alcohol use during pregnancy.
• Maintain a healthy weight and prenatal care.
• Ensure adequate prenatal nutrition, including folic acid.
• Discuss any medications or supplements with a healthcare provider before pregnancy.

When to Seek Professional Help

Seek immediate medical attention if an infant is born with visible abdominal organs protruding through the abdominal wall. Early intervention is critical to prevent infection and further organ damage. Contact a healthcare provider if the infant shows signs of distress, poor feeding, or abdominal distension after repair.

Tips for Medical Coders

Document the presence of the abdominal wall defect, location of the protrusion, and any associated complications. Note whether the defect is isolated or linked to other anomalies. Ensure documentation supports the need for surgical repair and any postoperative care. Include details about prenatal diagnosis and delivery circumstances when available.